ORPHA:672979
Craniosynostosis-facial dysmorphism-brachydactyly syndrome
Synonyms: TCF12-related syndromic craniosynostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis-facial dysmorphism-brachydactyly syndrome | TCF12-related syndromic craniosynostosis |
| fr | Syndrome de craniosynostose-dysmorphie faciale-brachydactylie | |
| de | Kraniosynostose-Gesichtsdysmorphien-Brachydaktylie-Syndrom | TCF12-assoziierte syndromale Kraniosynostose |
| es | Síndrome de craneosinostosis-dismorfia facial-braquidactilia | Craneosinostosis sindrómica asociada al gen TCF12 |
| it | Sindrome craniosinostosi-dismorfismi facciali-brachidattilia | Craniosinostosi sindromica correlata a TCF12 |
| nl | Craniosynostose - faciale dysmorfie - brachydactylie-syndroom | TCF12-gerelateerde syndromale craniosynostose |
| pt | Síndrome de craniossinostose-dismorfia facial-braquidactilia | Craniossinostose sindrómica TCF12-relacionada |
| pl | Craniosynostosis-facial dysmorphism-brachydactyly syndrome | = en |
| cs | Syndrom zahrnující kraniosynostózu, faciální dysmorfii a brachydaktylii | = en |
| uk | Синдром краніосиностозу-лицевого дизморфізму-брахідактилії | Синдромний краніосиностоз, повязаний з TCF12 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615314 | NTBT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0014128 | E | validated | |
| MONDO | 14128 | E | validated | |
| UMLS | C4303810 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TCF12 | Disease-causing germline mutation(s) in | Assessed | HGNC:11623 | ENSG00000140262 | 600480 | 15q21.3 | transcription factor 12 | 23354436[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/672979
- This record as JSON: /data/d/672979.json